Consider Muscle Disease in Children with Elevated Transaminase

Abstract

The transaminases alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are markers of hepatocellular injury but are highly concentrated in muscle cells. Consequently, muscular dystrophies such as Duchenne muscular dystrophy, lead to hypertransaminasemia. Elevation in ALT and AST is most striking during the early stages of disease, before onset of or when only subtle signs of muscle disease are present. Thus, the incidental finding of elevated ALT/AST may be the presenting sign of muscle disease in many children and provides an opportunity for early diagnosis. Many physicians, however, pursue extensive workup for liver disease in children who present with the incidental finding of elevated ALT/AST. This results in delayed diagnosis and initiation of treatment and increased expense and may lead to unnecessary invasive procedures. We report 12 patients with muscle disease who presented with a variety of symptoms and were found to have an incidental finding of elevated ALT/AST. We propose a rapid screening process for evaluating children with the incidental finding of elevated ALT/ AST to shorten the time to diagnosis of muscle disease. (J Am Board Fam Med 2012;25:536 -540.)

Diagnosis of Muscular Dystrophy in a 6‐Week‐Old With Jaundice

“…2 CK is elevated at birth in children with Duchenne muscular dystrophy, 4 and the transaminitis in patients with muscular dystrophies is most impressive before the symptoms of muscle disease are present. 1 In this particular patient, the AST to ALT ratio was 2, suggestive of a non-hepatic etiology. However, serum ALT can be greater than AST in occult muscle disease, 5 and so a CK should be considered in the evaluation of elevated transaminases regardless of the ratio.…”

“…[1][2][3] Muscular dystrophies are inherited disorders of pathologic myofibril degeneration and many of them are characterized by a markedly elevated serum creatinine kinase level. Our patient is unusual in that he was diagnosed with muscular dystrophy in the evaluation of persistent unconjugated hyperbilirubinemia at just 6 weeks of age.…”

The transformation in biomarker detection and management of drug‐induced liver injury

“…In muscle diseases, such as Muscular Dystrophy serum ALT and AST can exceed 10× ULN . Creatine‐kinase, a muscle specific enzyme, can be quantified to determine whether the origins of altered ALT are related to muscle injury . A problem arises however, when patients with underlying muscular disorders are suspected to have liver injury.…”

El niño con hipertransaminasemia: ¿cómo continuar?

“…Dos series publicadas recientemente muestran una demora significativa entre el momento de los primeros signos de miopatía y el diagnóstico definitivo de la enfermedad. 5,6 El bajo nivel de sospecha explica por qué nos orientamos en primera instancia (incorrectamente) hacia una hepatopatía.…”